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Early cardiac screening necessary for muscular dystrophy patients
October 31, 2005Early diagnosis and treatment of heart disease may lead to longer life in Duchenne and Becker muscular dystrophy patients, say experts at Baylor College of Medicine (BCM) and Texas Children's Hospital in Houston in a report that appeared online in the journal Circulation.
Cardiac disease, particularly dilated cardiomyopathy and heart failure, is the major cause of mortality in patients with muscular dystrophy and is present in most boys with Duchenne muscular dystrophy and approximately 70 percent of those with Becker muscular dystrophy. These are the two common forms of muscular dystrophy caused by defects in a gene called dystrophin.
"It should be the standard of care for all newly diagnosed Duchenne and Becker muscular dystrophy patients to be referred to a cardiologist for screening, probably by 10 years of age or earlier," says Dr. Jeffrey A. Towbin, professor of pediatrics at BCM and chief of pediatric cardiology at Texas Children's Hospital.
Towbin and his group studied 69 boys with DMD and BMD. After the first abnormal echocardiogram, which occurred at 14-15 years, 31 boys were started on ACE inhibitor or beta blocker therapy. During the follow-up two patients remained stable with their dilated cardiomyopathy, eight showed improvement and 19 normalized both heart size and function.
"This study also helped us realize that while some dystrophin-gene mutations are predictors of early onset cardiac abnormalities, others may actually protect against early development of these abnormalities," says Towbin.
Cardiac symptoms typically appear late in the course of cardiomyopathy, in part because affected individuals are usually wheelchairchair bound and often physically inactive. Heart disease progresses quickly, leading to premature death, often before 25 years of age.
Texas Children's Hospital
Towbin and his group studied 69 boys with DMD and BMD. After the first abnormal echocardiogram, which occurred at 14-15 years, 31 boys were started on ACE inhibitor or beta blocker therapy. During the follow-up two patients remained stable with their dilated cardiomyopathy, eight showed improvement and 19 normalized both heart size and function.
"This study also helped us realize that while some dystrophin-gene mutations are predictors of early onset cardiac abnormalities, others may actually protect against early development of these abnormalities," says Towbin.
Cardiac symptoms typically appear late in the course of cardiomyopathy, in part because affected individuals are usually wheelchairchair bound and often physically inactive. Heart disease progresses quickly, leading to premature death, often before 25 years of age.
Texas Children's Hospital
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Possible help in fight against muscle-wasting disease
A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.
Exon-skipping drug prevents muscle wasting, maintains muscle function in dystrophin deficient mice
An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan.
To regenerate muscle, cellular garbage men must become builders
For scientists at the European Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, what seemed like a disappointing result turned out to be an important discovery.
Zoo volunteers help explain mysteries of the genome
As the University of Leicester approaches the 25th anniversary of the discovery of DNA fingerprinting (September 10), Leicester geneticists interested in a particular type of DNA are receiving some help from an unusual band of assistants.
Small molecule inhibits pathology associated with myotonic dystrophy type 1
Researchers at the University of Illinois have designed a small molecule that blocks an aberrant pathway associated with myotonic dystrophy type 1, the most common form of muscular dystrophy.
Researchers identify new function for protein missing in Duchenne muscular dystrophy
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Sticky protein helps reinforce fragile muscle membranes
A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise.
Stem cell surprise for tissue regeneration
Scientists working at the Carnegie Institution's Department of Embryology, with colleagues, have overturned previous research that identified critical genes for making muscle stem cells.
Researchers make progress toward early identification of muscular dystrophy
The saying "Knowing is half the battle" is never more true than when discussing early treatment of disease. Muscular dystrophy is one such disease where patients can benefit from early treatment. Now, new research is moving doctors and scientists closer to disease diagnosis in advance of patient symptoms.
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